Varaico: Literature-Extracted Genetic Variants

APBA1

147 papers

RefSeq Summary

The protein encoded by this gene is a member of the X11 protein family. It is a neuronal adapter protein that interacts with the Alzheimer's disease amyloid precursor protein (APP). It stabilizes APP ...

Pfam Domains

PIDaa 461–618UCSCPhosphotyrosine interaction domain (PTB/PID)

PDZaa 656–740UCSCPDZ domain

PDZaa 747–820UCSCPDZ domain

Gene Aliases

HGNC Name

amyloid beta precursor protein binding family A member 1

HGNC Previous Symbol

MINT1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 139 variants

3 papers

NM_001163.4

p.S184A

c.550T>G

2 papers

NM_001163.4

p.A92T

c.274G>A

2 papers

NM_001163.4

p.M161L

c.481A>T

2 papers

NM_001163.4

p.M161L

c.481A>C

2 papers

NM_001163.4

p.E179delFs

c.535delC

2 papers

NM_001163.4

p.E229K

c.685G>A

2 papers

NM_001163.4

p.F608V

c.1822T>G

2 papers

NM_001163.4

p.G711A

c.2132G>C

2 papers

NM_001163.4

p.V805I

c.2413G>A

1 paper

NM_001163.4

p.L4*

c.11T>A

1 paper

NM_001163.4

p.L4F

c.12G>C

1 paper

NM_001163.4

p.E5Q

c.13G>C